ClinVar Miner

List of variants reported as benign for autosomal dominant striatal neurodegeneration type 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003719.5(PDE8B):c.1764A>G (p.Glu588=) rs335614 0.70706
NM_003719.5(PDE8B):c.*64G>A rs40594 0.61909
NM_003719.5(PDE8B):c.*512T>C rs460267 0.45685
NM_003719.5(PDE8B):c.*516A>G rs459366 0.23685
NM_003719.5(PDE8B):c.*63C>T rs62362531 0.11095
NM_003719.5(PDE8B):c.*456A>G rs16874261 0.06538
NM_003719.5(PDE8B):c.*70C>T rs78676901 0.03231
NM_003719.5(PDE8B):c.1366-5G>A rs79008179 0.02537
NM_003719.5(PDE8B):c.*480T>G rs72769019 0.01962
NM_003719.5(PDE8B):c.*437A>G rs3733953 0.01915
NM_003719.5(PDE8B):c.*1128A>G rs55841084 0.01768
NM_003719.5(PDE8B):c.552T>C (p.His184=) rs971647 0.01569
NM_003719.5(PDE8B):c.1267A>G (p.Ile423Val) rs61999348 0.01007
NM_003719.5(PDE8B):c.362G>A (p.Arg121His) rs115599001 0.00904
NM_003719.5(PDE8B):c.*1590T>A rs1580 0.00565
NM_003719.5(PDE8B):c.63C>T (p.Asp21=) rs201411330 0.00439
NM_003719.5(PDE8B):c.2274C>T (p.Cys758=) rs116781254 0.00318
NM_003719.5(PDE8B):c.-23G>T rs574193520 0.00249
NM_003719.5(PDE8B):c.1698C>A (p.Ala566=) rs140381860 0.00242
NM_003719.5(PDE8B):c.*1213C>T rs187090647 0.00140
NM_003719.5(PDE8B):c.1152T>C (p.Thr384=) rs114017128 0.00115
NM_003719.5(PDE8B):c.*439C>T rs564968394 0.00083
NM_003719.5(PDE8B):c.2622A>G (p.Leu874=) rs61735409 0.00081
NM_003719.5(PDE8B):c.672G>A (p.Ala224=) rs138641918 0.00078
NM_003719.5(PDE8B):c.*1575G>A rs146195825 0.00076
NM_003719.5(PDE8B):c.2145G>A (p.Thr715=) rs112049153 0.00058
NM_003719.5(PDE8B):c.1309C>T (p.Arg437Cys) rs201363586 0.00053
NM_003719.5(PDE8B):c.*741A>T rs189940792 0.00044
NM_003719.5(PDE8B):c.2055G>A (p.Glu685=) rs146449408 0.00043
NM_003719.5(PDE8B):c.2263G>A (p.Asp755Asn) rs116027371 0.00034
NM_003719.5(PDE8B):c.435C>T (p.Ser145=) rs76299136 0.00031
NM_003719.5(PDE8B):c.591-7A>G rs200516880 0.00026
NM_003719.5(PDE8B):c.*341C>T rs559578439 0.00018
NM_003719.5(PDE8B):c.400-7G>T rs201875450 0.00015
NM_003719.5(PDE8B):c.*57C>T rs566925510 0.00011
NM_003719.5(PDE8B):c.*648T>G rs184498073 0.00011
NM_003719.5(PDE8B):c.1299G>A (p.Leu433=) rs376289812 0.00010
NM_003719.5(PDE8B):c.2235G>A (p.Lys745=) rs774632534 0.00010
NM_003719.5(PDE8B):c.*496A>G rs369658924 0.00009
NM_003719.5(PDE8B):c.2130G>A (p.Arg710=) rs186052720 0.00006
NM_003719.5(PDE8B):c.1560G>A (p.Glu520=) rs199820842 0.00002
NM_003719.5(PDE8B):c.1921G>A (p.Asp641Asn) rs539447103 0.00002
NM_003719.5(PDE8B):c.593C>T (p.Ser198Leu) rs377536938 0.00002
NM_003719.5(PDE8B):c.858C>T (p.Ser286=) rs575049091

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.